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The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]
ZBTB42 (Zinc Finger And BTB Domain Containing 42) is a Protein Coding gene. Diseases associated with ZBTB42 include Lethal Congenital Contracture Syndrome 6 and Lethal Congenital Contracture Syndrome. An important paralog of this gene is ZBTB18.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | 21193930 |
GO:0005654 | nucleoplasm | ISS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006974 | cellular response to DNA damage stimulus | IBA | 21873635 |
GO:0007517 | muscle organ development | IMP | 25055871 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ZBTB42 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ZBTB42 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ZBTB42 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Zbtb42 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Zbtb42 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ZBTB42 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ZBTB42 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ZBTB42 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | ZBTB42 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
741991 | Likely Benign: not provided | 104,801,401(+) | C/T | SYNONYMOUS_VARIANT | |
746127 | Likely Benign: not provided | 104,802,163(+) | C/T | SYNONYMOUS_VARIANT | |
768678 | Benign: not provided | 104,802,421(+) | C/T | SYNONYMOUS_VARIANT | |
780159 | Benign: not provided | 104,802,403(+) | C/T | SYNONYMOUS_VARIANT | |
789824 | Benign: not provided | 104,802,174(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3953n54 | CNV | gain | 21841781 |
dgv3957n54 | CNV | loss | 21841781 |
dgv3958n54 | CNV | loss | 21841781 |
esv3635627 | CNV | gain | 21293372 |
nsv1054574 | CNV | loss | 25217958 |
nsv1069824 | CNV | deletion | 25765185 |
nsv1143618 | CNV | deletion | 24896259 |
nsv470677 | CNV | loss | 18288195 |
nsv511544 | CNV | loss | 21212237 |
nsv517038 | CNV | loss | 19592680 |
nsv566057 | CNV | gain+loss | 21841781 |
nsv566069 | CNV | loss | 21841781 |
nsv566073 | CNV | loss | 21841781 |
nsv952271 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lethal congenital contracture syndrome 6 |
|
|
lethal congenital contracture syndrome |
|
|
polyhydramnios |
|
|